ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTD5
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614927
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002209) Sparse scalp hair 59 / 7739
2
(HPO:0008391) Dystrophic fingernails 6 / 7739
3
(HPO:0001802) Absent toenail 6 / 7739
4
(HPO:0007436) Hair-nail ectodermal dysplasia 5 / 7739
5
(OMIM) Thin body hair 3 / 7739
6
(OMIM) Micronychia 4 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Fine eyebrows 1 / 7739
9
(OMIM) Fine eyelashes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare ...
Clinical Description OMIM Rafiq et al. (2005) reported ectodermal dysplasia of the hair/nail type in 13 members (8 males; 5 females) over 6 generations of an inbred Pakistani family. Clinical features included micronychia, resulting in highly dystrophic fingernails, anonychia of toenails, ...